A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560580



Internal ID333585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151447581..231256535hg38UCSC Ensembl
chr2:152304095..232121248hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3879808955
hg1979817154
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925488
Samples
Known GenesAAMP, ABCA12, ABCB11, ABCB6, ABI2, ACADL, ACSL3, ACVR1, ACVR1C, ADAM23, AGFG1, AGPS, AHCTF1P1, ALS2, ALS2CR11, ALS2CR12, ANKAR, ANKRD44, ANKZF1, AOX1, AOX2P, AP1S3, ARL5A, ARL6IP6, ARMC9, ARPC2, ASIC4, ASNSD1, ATF2, ATG9A, ATIC, ATP5G3, B3GALT1, BARD1, BAZ2B, BBS5, BCS1L, BMPR2, BOLL, BZW1, C2orf47, C2orf62, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, C2orf88, CAB39, CACNB4, CALCRL, CARF, CASP10, CASP8, CCDC108, CCDC140, CCDC141, CCDC148, CCDC148-AS1, CCDC150, CCDC173, CCL20, CCNYL1, CD28, CD302, CDCA7, CDK15, CDK5R2, CERKL, CERS6, CERS6-AS1, CFLAR, CFLAR-AS1, CHN1, CHPF, CHRNA1, CIR1, CLK1, CNPPD1, COBLL1, COL3A1, COL4A3, COL4A4, COL5A2, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CUL3, CWC22, CXCR1, CXCR2, CXCR2P1, CYBRD1, CYP20A1, CYP27A1, CYTIP, DAPL1, DAW1, DCAF17, DES, DFNB59, DHRS9, DIRC1, DIRC3, DLX1, DLX2, DNAH7, DNAJB2, DNAJC10, DNER, DNPEP, DOCK10, DPP4, DUSP19, DYNC1I2, DYTN, EEF1B2, EPHA4, ERBB4, ERMN, EVX2, FAM117B, FAM124B, FAM126B, FAM134A, FAM171B, FAP, FARSB, FASTKD1, FASTKD2, FBXO36, FEV, FIGN, FKBP7, FMNL2, FN1, FRZB, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GALNT13, GALNT3, GALNT5, GCA, GCG, GCSHP3, GLB1L, GLS, GMPPA, GORASP2, GPBAR1, GPD2, GPR1, GPR155, GPR1-AS, GPR55, GRB14, GTF3C3, GULP1, HAT1, HECW2, HIBCH, HNRNPA3, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HOXD-AS1, HOXD-AS2, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, ICA1L, ICOS, IDH1, IDH1-AS1, IFIH1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP1, IRS1, ITGA4, ITGA6, ITGAV, ITGB6, ITM2C, KANSL1L, KCNE4, KCNH7, KCNJ3, KCTD18, KIAA1715, KLF7, KLHL23, KLHL41, LANCL1, LINC00607, LINC00608, LINC01116, LINC01124, LOC100129175, LOC100130451, LOC100130452, LOC100130691, LOC100144595, LOC100505984, LOC100506124, LOC100507140, LOC100507443, LOC100652824, LOC100996693, LOC151475, LOC151484, LOC200726, LOC285084, LOC646736, LOC654841, LRP2, LY75, LY75-CD302, MAP2, MARCH4, MARCH7, MARS2, MDH1B, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD6, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR153-1, MIR2355, MIR26B, MIR3128, MIR3129, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3606, MIR375, MIR4268, MIR4437, MIR4439, MIR4444-1, MIR4774, MIR4775, MIR4776-1, MIR4776-2, MIR4785, MIR548AR, MIR548F2, MIR548N, MIR561, MIR5702, MIR5703, MIR6512, MIR6513, MIR6809, MIR6810, MIR6888, MIR7845, MIR933, MLK7-AS1, MOB4, MOGAT1, MPP4, MREG, MRPL44, MSTN, MTX2, MYL1, MYO1B, MYO3B, NAB1, NABP1, NBEAL1, NCKAP1, NDUFB3, NDUFS1, NEB, NEUROD1, NFE2L2, NHEJ1, NIF3L1, NOP58, NOSTRIN, NR4A2, NRP2, NUP35, NYAP2, OBSL1, OLA1, ORC2, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PARD3B, PAX3, PCGEM1, PDE11A, PDE1A, PDK1, PECR, PGAP1, PHOSPHO2, PHOSPHO2-KLHL23, PID1, PIKFYVE, PKI55, PKP4, PLA2R1, PLCD4, PLCL1, PLEKHA3, PLEKHM3, PMS1, PNKD, PPIG, PPIL3, PPP1R1C, PRKAG3, PRKRA, PRPF40A, PSMD1, PSMD14, PTH2R, PTPRN, RAPGEF4, RAPGEF4-AS1, RAPH1, RBM45, RBMS1, RESP18, RFTN2, RHBDD1, RIF1, RNF25, RPE, RPL37A, RPRM, RQCD1, RUFY4, SATB2, SATB2-AS1, SCG2, SCHLAP1, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SDPR, SERPINE2, SESTD1, SF3B1, SGOL2, SGPP2, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC25A12, SLC38A11, SLC39A10, SLC40A1, SLC4A10, SLC4A3, SMARCAL1, SNORA41, SNORA70F, SNORD11, SNORD11B, SNORD51, SNORD70, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPATA3, SPATA3-AS1, SPATS2L, SPC25, SPEG, SPHKAP, SSB, SSFA2, STAM2, STAT1, STAT4, STK11IP, STK16, STK17B, STK36, STK39, STRADB, SUMO1, TANC1, TANK, TBR1, TFPI, TLK1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM194B, TMEM198, TMEM237, TNP1, TNS1, TRAK2, TRIP12, TTC21B, TTC21B-AS1, TTC30A, TTC30B, TTLL4, TTN, TTN-AS1, TUBA4A, TUBA4B, TYW5, UBE2E3, UBR3, UNC80, UPP2, USP37, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XIRP2, XRCC5, ZAK, ZC3H15, ZDBF2, ZFAND2B, ZNF142, ZNF385B, ZNF804A, ZSWIM2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560580
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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